Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Charcot-Marie-Tooth disease type 4J
Summary
- Synonym
-
- CMT4J
- autosomal recessive Charcot-Marie-Tooth disease type 4J
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110184
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001265 | Hyporeflexia |
| HP:0005684 | Distal arthrogryposis |
| HP:0002359 | Frequent falls |
| HP:0007182 | Peripheral hypomyelination |
| HP:0002936 | Distal sensory impairment |
| HP:0001284 | Areflexia |
| HP:0003676 | Progressive |
